Evidence for 28 genetic disorders discovered by combining healthcare and research data

Nature
Volume 586 Issue 7831, 29 October 2020
http://www.nature.com/nature/current_issue.html

 

Article | 14 October 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research data
By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.
Joanna Kaplanis, Kaitlin E. Samocha[…] & Kyle Retterer